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人及小鼠中无精子症缺失样(DAZL)基因的解剖结构与功能

Anatomy and Function of Deleted in Azoospermia Like (DAZL) Gene in Human and Mouse.

作者信息

Choi HeeJi, Cheon Yong-Pil

机构信息

Division of Developmental Biology and Physiology, Department of Biotechnology, Institute for Basic Sciences, Sungshin University, Seoul 02844, Korea.

出版信息

Dev Reprod. 2025 Jun;29(2):19-30. doi: 10.12717/DR.2025.29.2.19. Epub 2025 Jun 30.

Abstract

The deleted in azoospermia like (DAZL) gene is a member of the DAZ gene family. It is firstly identified in male germ cells and recognized as a key molecule of their development, now it is extended to the female germ cells and the embryo. The DAZL gene is constructed with 11 exons, 10 introns, a 5' untranslated region (UTR), and a 3' UTR, and the enhancers at the upstream of the promoter in both human and mouse. It has been revealed that DAZL gene expression is not restricted to germ cells. The known mechanisms for expression regulation include the CpG methylation on the promoter region and post-transcriptional regulation by antagonistic proteins. DAZL protein has one RNA recognition motif (RRM) and one DAZ repeat. DAZL orchestrates the translation of numerous mRNAs essential for germ cell proliferation, differentiation, and survival. Several studies have unveiled DAZL's broader roles, including its involvement in stemness and tumorigenicity through post-transcriptional regulation via polyadenylation and potential functions in RNA stabilization. The alternatively spliced variants are also evaluated in different tissues. This review consolidates current knowledge on DAZL's molecular mechanisms, expression, and emerging research directions, and introduces DAZL gene anatomy.

摘要

无精子症样缺失(DAZL)基因是DAZ基因家族的成员。它最初在雄性生殖细胞中被鉴定出来,并被认为是其发育的关键分子,现在其作用已扩展到雌性生殖细胞和胚胎。DAZL基因由11个外显子、10个内含子、一个5'非翻译区(UTR)和一个3'UTR构成,在人类和小鼠中,启动子上游还有增强子。已发现DAZL基因的表达并不局限于生殖细胞。已知的表达调控机制包括启动子区域的CpG甲基化以及拮抗蛋白的转录后调控。DAZL蛋白有一个RNA识别基序(RRM)和一个DAZ重复序列。DAZL协调许多对生殖细胞增殖、分化和存活至关重要的mRNA的翻译。多项研究揭示了DAZL更广泛的作用,包括其通过多聚腺苷酸化进行转录后调控参与干性和肿瘤发生,以及在RNA稳定方面的潜在功能。不同组织中也对可变剪接变体进行了评估。本综述整合了关于DAZL分子机制、表达及新兴研究方向的当前知识,并介绍了DAZL基因结构。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9731/12285545/45f350b68f9f/dr-29-2-19-g1.jpg

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